Titin abnormalities in patients with and without heart failure
Research type
Research Study
Full title
Can we establish abnormalities of titin structure in cardiac and skeletal muscle and relate these to genetic mutations?
IRAS ID
151238
Contact name
Klaus Witte
Contact email
Research summary
Titin is a polypeptide that forms a crucial part of the structure of muscle fibres. Mutations of the titin structure are associated with dilated cardiomyopathy, but whether they are associated with the development of heart failure in response to other stressors such as myocarditis or myocardial infarction is unknown. Furthermore, until recently it was impossible to identify the less common mutations of titin. These have now become possible as a result of 'next generation sequencing' (NGS) - a new technique available in Leeds.
We want to explore the genetics of titin and how these result in changes in titin structure both in cardiac and skeletal muscle.
In order to do this we will use samples of cardiac muscle form patients undergoing pacemaker extraction in whom small fragments of right ventricular tissue are often attached to the extracted tip of the lead and skeletal muscle obtained during the same extraction procedure from the pectoralis muscle. We will take an additional blood sample at the time of routine blood draws prior to the procedure to look at circulating DNA sequences.
REC name
Yorkshire & The Humber - Bradford Leeds Research Ethics Committee
REC reference
14/YH/0165
Date of REC Opinion
20 Jun 2014
REC opinion
Further Information Favourable Opinion